genetic-diseases

Documents about genetic-diseases

• Study of Ibuprofen to Preserve Lung Function in Patients With Cystic Fibrosis#894953ClinicalTrials.gov
• Genetic Analysis of Uncommon Disease Presentations in Non-US Populations#904149ClinicalTrials.gov
• Genetic Variants of Peroxisome Proliferator-Activated Receptor δ Are Associated with Gastric Cancer#780446eScholarship
• Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study#297905ScholarlyCommons at Penn
• Coupling time-aware SNP thresholds with genetic markers to define bacterial transmission chains in hospital surveillance#241510bioRxiv / medRxiv
• Single-cell genetics identifies cell-type-specific effector genes across complex traits and diseases#282946bioRxiv / medRxiv
• Age-Based Risk Estimates for C9orf72RE-related Diseases: Theoretical Developments and Added Value for Genetic Counselling#403778bioRxiv / medRxiv
• Rady Children's Institute Genomic Biorepository#838512ClinicalTrials.gov
• Genomic Determinants and Shared Genetic Pathways of Periodontal Disease#864719ClinicalTrials.gov
• Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone#832100ClinicalTrials.gov
• Unveiling the potential of banana (<i>Musa</i> spp.) improvement through genetic manipulation: current trends and future implications#120201Europe PMC
• Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases#844347ClinicalTrials.gov
• Prospective, Non-interventional Study to Evaluate the Effectiveness of Elocta Compared to Conventional Factor Products#877780ClinicalTrials.gov
• Integrative network pharmacology, transcriptomics, and molecular docking identify candidate <i>Centella asiatica</i> constituents and targets in neurodegenerative diseases#418993PLOS
• A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases#850887ClinicalTrials.gov
• AI in variant analysis: fast track to genetic diagnoses#316797Springer Nature OA
• Age-based risk estimates for C9orf72RE-related diseases: Theoretical developments and added value for genetic counseling#796412HAL (France)
• Pilot Study of Familial Nonsyndromal Mondini Dysplasia#828515ClinicalTrials.gov
• Study Into Genetic Influence on Cholesterol Response to Dietary Fat#842317ClinicalTrials.gov
• Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods#882582ClinicalTrials.gov
• Characterization of the Pathobiology of Early Lung Destruction in Alpha 1-Antitrypsin Deficient Individuals#829737ClinicalTrials.gov
• Phase I Study of the Third Generation Adenovirus H5.001CBCFTR in Patients With Cystic Fibrosis#844679ClinicalTrials.gov
• Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"#993345ClinicalTrials.gov
• A protein interactome for the last eukaryotic common ancestor illuminates the biochemical basis of modern genetic diseases#27042bioRxiv / medRxiv
• Highly Accurate Non-Invasive Preimplantation Genetic Testing for Monogenic and Polygenic Diseases from Spent Medium#132271Unpaywall
• Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer#424312ClinicalTrials.gov
• Epilepsy-associated digenic variants affecting an actin/mitochondria/glutamate pathway promote seizure susceptibility#676448Europe PMC
• Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome#995668Dipòsit Digital de la Universitat de Barcelona
• Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia#812163ClinicalTrials.gov
• Sequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition#862877ClinicalTrials.gov
• Information and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseases#284715Lume 5.8
• Randomized Study of Pancrelipase With Bicarbonate (PANCRECARB) Capsules in Reducing Steatorrhea in Patients With Cystic Fibrosis#833264ClinicalTrials.gov
• An International Study to Evaluate the Real-world Effectiveness and Usage of Alprolix in Patients With Haemophilia B#856368ClinicalTrials.gov
• Caregiving Networks Across Disease Context and the Life Course#991937ClinicalTrials.gov
• Emergence of Genetic Mutations associated with Malaria Diagnostic and Artemisinin Partial Resistance in Somalia: A Genomic Surveillance Study#467678bioRxiv / medRxiv
• Gene-Specific Detection Rate of Adenomas and Advanced Adenomas in Lynch Syndrome#628810Dipòsit Digital de la Universitat de Barcelona
• Abnormal Enamel Mineralization and Hypercalcemia due to GNA11 Variants#669959HAL (France)
• Genetic Factors That Influence Chronic Obstructive Pulmonary Disease in Hispanics#875084ClinicalTrials.gov
• Advancing Neurogenetic Diagnoses Through Long-Read Sequencing#895749ClinicalTrials.gov
• Genetic Influence on Susceptibility to Type 1 Diabetes Mellitus#915168ClinicalTrials.gov
• Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome#853203ClinicalTrials.gov
• Genetic predispositions for anxiety disorders and major depressive disorder affect current dietary habits in older patients with lifestyle-related diseases.#13482NCBI PubMed Central
• Prediction of digenism through supervised graph representation learning on heterogenous biological networks#304632HAL (France)
• Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome#827993ClinicalTrials.gov
• Mouse ENU Mutagenesis to Understand Immunity to Infection: Methods, Selected Examples, and Perspectives#971272HAL (France)
• Genetic diversity of two viruses affecting lentil and chickpea crops in the highlands of Ethiopia#205049CGSpace
• Diet Intervention and GEnetic STudy (DIGEST-Pilot)#844020ClinicalTrials.gov
• Chinese Herb Nephropathy Epidemiology and Association With CYP2D6, CYP2C19, PXR, or MDR1 Polymorphism#868804ClinicalTrials.gov
• Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)#995106ClinicalTrials.gov
• 21 U.S.C. § 360bbb-8 — Consultation with external experts on rare diseases, targeted therapies, and genetic targeting of treatments#577325US Code (LII)